V3V (p.Val3Val) variant of ETFDH (Q16134)
V3V (p.Val3Val) in ETFDH (Q16134) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V3V (p.Val3Val) variant details
- p.Val3Val
- gnomAD 4-158672465-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 8.67
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available